Description
Product Characteristics:
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD22 (ankyrin repeat domain 22) is a 191 amino acid protein that contains four ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, ANKRD22 is encoded by a gene that maps to human chromosome 10. Chromosome 10 encodes nearly 1,200 genes within 135 million bases, making up approximately 4.5 % of the human genome. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman?s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Synonyms: ACTBL1, ovary, testis-expressed protein on chromosome 22, A26C3, Actin, beta like 1, ANKRD26 like family C, member 3, ANKRD26-like family C member 3, Cancer/testis antigen family 104, member 7, CT104.7, LA16c 3G11.6, POTE 22, POTE ankyrin domain family member H, POTE ankyrin domain family, member H, POTE-22, POTE22, POTEH, POTEH_HUMAN, Prostate, Prostate, ovary, testis expressed protein on chromosome 22, protein expressed in prostate, ovary, testis, and placenta 22, protein expressed in prostate, ovary, testis, and placenta POTE14 like.
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